Anna Ardissone

Anna Ardissone

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Anna Ardissone

Anna Ardissone

Publications by authors named "Anna Ardissone"

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Epileptic phenotypes in children with early-onset mitochondrial diseases.

Acta Neurol Scand 2019 Sep 6;140(3):184-193. Epub 2019 Jun 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/ane.13130DOI Listing
September 2019

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.

Neuromuscul Disord 2019 05 10;29(5):376-380. Epub 2019 Apr 10.

Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Temolo 4, 20126 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.04.001DOI Listing
May 2019

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Am J Hum Genet 2017 May;100(5):725-736

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London SW3 6JJ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420355PMC
May 2017

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in gene.

Acta Myol 2017 Mar;36(1):28-32

Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Foundation IRCCS Neurological Institute "Carlo Besta", Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479107PMC
March 2017

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Hum Mutat 2016 09 11;37(9):898-903. Epub 2016 Jul 11.

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.

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http://dx.doi.org/10.1002/humu.23033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108486PMC
September 2016

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Eur J Pediatr 2016 Aug 16;175(8):1113-8. Epub 2016 Jan 16.

Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1007/s00431-015-2685-3DOI Listing
August 2016

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Biochim Biophys Acta 2016 Aug 8;1857(8):1326-1335. Epub 2016 Mar 8.

Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.02.022DOI Listing
August 2016

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.

Neurol Sci 2016 Jun 7;37(6):973-7. Epub 2016 Jan 7.

Division of Child Neurology, IRCCS-Fondazione Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-015-2466-9DOI Listing
June 2016

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Curr Neurol Neurosci Rep 2016 Jun;16(6):54

Child Neurology Department, Neurological Institute C. Besta Foundation IRCCS, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s11910-016-0656-3DOI Listing
June 2016

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

JIMD Rep 2015 13;22:115-20. Epub 2015 Mar 13.

Unit of Child Neurology, The Foundation "Carlo Besta" Neurological Institute (IRCCS), Via Celoria 11, 20133, Milan, Italy,

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http://dx.doi.org/10.1007/8904_2015_419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486273PMC
July 2015

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

Muscle Nerve 2015 Apr 6;51(4):620-1. Epub 2015 Feb 6.

Child Neurology Unit, Foundation IRCCS "Carlo Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1002/mus.24582DOI Listing
April 2015

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Front Genet 2014 20;5:412. Epub 2014 Nov 20.

Unit of Child Neurology, Istituto Neurologico "Carlo Besta," Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Milan, Italy.

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http://dx.doi.org/10.3389/fgene.2014.00412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238403PMC
December 2014

Mitochondrial dysfunction in central nervous system white matter disorders.

Glia 2014 Nov 28;62(11):1878-94. Epub 2014 May 28.

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.

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http://dx.doi.org/10.1002/glia.22670DOI Listing
November 2014

Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.

Muscle Nerve 2014 Jul 5;50(1):145-7. Epub 2014 May 5.

Child Neurology Unit, Foundation IRCCS "Carlo Besta" Neurological Institute, Milan, Italy.

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http://doi.wiley.com/10.1002/mus.24205
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http://dx.doi.org/10.1002/mus.24205DOI Listing
July 2014

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.

Muscle Nerve 2009 Jun;39(6):845-8

Division of Neuromuscular Diseases and Neuroimmunology, Muscle Cell Biology Laboratory, Foundation Neurological Institute C. Besta, Via Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1002/mus.21271DOI Listing
June 2009